A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6942039



Internal ID9982815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:172296521..172297280hg38UCSC Ensembl
Outerchr5:171723525..171724284hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38760
hg19760
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731094
Supporting Variants
SamplesSSM001
Known Genes
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6942039
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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